*gulp* this is what I am worried about :p

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atdevel
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08 Jul 2013, 12:12 pm

http://scienceoveracuppa.com/2013/07/07 ... sm-part-i/

While I have a lot of facial features that are in common with these disorders, I can't possibly have them all, and a lot of them have early death.



neilson_wheels
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08 Jul 2013, 12:43 pm

Hello, I think that you are setting yourself up for a lot of stress looking for co-morbids like this.

1. When considering these conditions I feel that you will find that they are much rarer than Autism.

2. It is also very unlikely that there will then be an overlap of multiples of these syndromes and Autism too.

3. Then you have to find out if these conditions are allied with Aspergers specifically. I'm assuming you have Aspergers rather than another form of Autism.

If you reach this point and you still have concerns about an additional syndrome then you should investigate further.



Last edited by neilson_wheels on 08 Jul 2013, 12:44 pm, edited 1 time in total.

redrobin62
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08 Jul 2013, 12:44 pm

It's interesting that a few WPers have likened spectrumites as being like X-Men or mutants. Some of these conditions (SLOS, CHARGE, etc) have mutations in their genes. It also makes me wonder: you'll often hear about folks on the spectrum who look younger than their age. I get that pointed out to me all the time. I wouldn't be surprised if that's also some kind of mutation.



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08 Jul 2013, 12:44 pm

Take a deep breath and realize you are probably being a hypochondriac in this matter. With all of the conditions listed in the posted blog are genetic conditions that are easily tested for. You are not going to be a candidate for testing for them if you have only 1 or 2 physical features associated with them. These conditions have clusters of symptoms that are associated with them. A person can share a few of the physical features and not have the disease because there are other genes that control the physical features. Breathe deep, you are fine.


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08 Jul 2013, 12:47 pm

redrobin62 wrote:
It's interesting that a few WPers have likened spectrumites as being like X-Men or mutants. Some of these conditions (SLOS, CHARGE, etc) have mutations in their genes. It also makes me wonder: you'll often hear about folks on the spectrum who look younger than their age. I get that pointed out to me all the time. I wouldn't be surprised if that's also some kind of mutation.

I get that age-thing a lot. I still have to show ID when I buy ciggarettes (age limit 18, I'm 37).



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08 Jul 2013, 12:58 pm

Just to clarify, the genetic conditions listed in the blog post are definitely very rare, i.e., 1:10,000 or fewer. But it wouldn't be unusual for certain physical features, especially facial, to occur more frequently with "idiopathic" autism. A cause or causes are unlikely to solely affect the brain and nothing else since the central nervous system doesn't develop in a vacuum. Iirc, autistics may have certain features of the ear that may be more common, and who knows, there may be other traits as well.

If your general health has been relatively okay, then the likelihood of fulfilling some official syndrome is small, since syndromes tend to be identified based on severity. As it was said, many of these syndromes can be downright deadly.


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08 Jul 2013, 1:23 pm

In regards to cardiomegaly, and subsequent high blood pressure, some MD's believe that diuretics used to treat hypertension are also beneficial in treating autism. Here are links to two reports on the drugs bumetanide and propranolol.

http://news.sciencemag.org/sciencenow/2 ... -hope.html

http://www.medindia.net/news/People-Wit ... 1384-1.htm



atdevel
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08 Jul 2013, 2:12 pm

Sophist wrote:
Just to clarify, the genetic conditions listed in the blog post are definitely very rare, i.e., 1:10,000 or fewer. But it wouldn't be unusual for certain physical features, especially facial, to occur more frequently with "idiopathic" autism. A cause or causes are unlikely to solely affect the brain and nothing else since the central nervous system doesn't develop in a vacuum. Iirc, autistics may have certain features of the ear that may be more common, and who knows, there may be other traits as well.

If your general health has been relatively okay, then the likelihood of fulfilling some official syndrome is small, since syndromes tend to be identified based on severity. As it was said, many of these syndromes can be downright deadly.


Oh wow i didn't know you had a wp account! :o

My general health is okay, though I looked up some links and saw that there could also be mild versions of some of these. I won't worry about it for now.



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08 Jul 2013, 3:37 pm

Considering that this promotes to genetic research, it's probably bogus "syndromes" to promote a cure for money and end of autism.


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Sophist
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09 Jul 2013, 8:57 am

atdevel wrote:
Sophist wrote:
Just to clarify, the genetic conditions listed in the blog post are definitely very rare, i.e., 1:10,000 or fewer. But it wouldn't be unusual for certain physical features, especially facial, to occur more frequently with "idiopathic" autism. A cause or causes are unlikely to solely affect the brain and nothing else since the central nervous system doesn't develop in a vacuum. Iirc, autistics may have certain features of the ear that may be more common, and who knows, there may be other traits as well.

If your general health has been relatively okay, then the likelihood of fulfilling some official syndrome is small, since syndromes tend to be identified based on severity. As it was said, many of these syndromes can be downright deadly.


Oh wow i didn't know you had a wp account! :o

My general health is okay, though I looked up some links and saw that there could also be mild versions of some of these. I won't worry about it for now.


Yeah, I was a moderator here many moons ago. I don't come on too frequently. Work keeps me pretty busy and in my off time, if online at all, I'm more likely on Twitter reading various science feeds. Or writing blog posts on Sundays.

As far as not worrying about syndromic issues, that sounds like a good idea.


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09 Jul 2013, 12:59 pm

I don't think this is a cause for worry. As many others have pointed out these syndromes are very rare; more to the point, the physical abnormalities and mental disabilities associated with these diseases tend to be incredibly severe. The article you linked doesn't do a great job of pointing this out, but when they mention abnormal features they don't mean "well, my head is kind of big and my ears look weird", they're referring to severe & obvious deformities (take a look at some of the pictures on the page). When they mention intellectual disabilities they're mainly talking about mental retardation. Also these syndromes cause a variety of systemic health issues which would have been noticed in early childhood if you had them. Diagnosing yourself with one of these syndromes is kind of like convincing yourself you've got terminal lung cancer because you have a cough.

That said, there are distinctive facial features that are associated with non-syndromic autism (at least in Caucasian males). Here's a link to the paper. This is a graphical summary of their findings:
Image
The lines represent distances between facial features. Interestingly the facial features corresponded to clinical presentations:

Quote:
Subgroup 1 was characterized by increased autism severity scores, low frequency of Asperger syndrome diagnoses, lower cognitive scores, increased regression, decreased macrocephaly and decreased total problem scores. By contrast, subgroup 2 was characterized by increased Asperger syndrome diagnoses, decreased autism severity scores and increased incidence of macrocephaly... For all of the language measures, subgroup 2 subjects scored slightly better than subgroup 1.

(However it's worth noting that there were only 12 subjects classified into subgroup 1 and 5 into subgroup 2. It would be interesting to see a study with a larger sample size.)

In the embryo the development of the brain and of the face are closely tied together, so it's not surprising that conditions which affect brain structure could also affect the development of facial features. The presence of abnormal facial features doesn't necessarily point to a syndromic cause.



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15 Jul 2013, 8:23 am

For anyone still interested, this is the next part in the syndromic autism series: http://scienceoveracuppa.com/2013/07/14 ... m-part-ii/

Includes:

Isodicentric Chromosome 15 Duplication Syndrome
Angelman Syndrome
Prader-Willi Syndrome
Tuberous Sclerosis
Fragile X Syndrome


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